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FANCI
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  • FANCI
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

FANCI
Synonyms FLJ10719, KIAA1794
Gene descriptioni

Full gene name according to HGNC.

FA complementation group I
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 15
Cytoband q26.1
Chromosome location (bp) 89243945 - 89317261
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

14
Ensembl ENSG00000140525 (version 109)
Entrez gene 55215
HGNC HGNC:25568
UniProt Q9NVI1 (UniProt - Evidence at protein level)
neXtProt NX_Q9NVI1
GeneCards FANCI
Antibodypedia FANCI antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

DNA-binding
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Cell cycle, DNA damage, DNA repair
Gene summary (Entrez)i

Useful information about the gene from Entrez

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
FANCI-201
ENSP00000300027
ENST00000300027
Q9NVI1
[Direct mapping] Fanconi anemia group I protein
Show all
   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785 [chromatin]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007049 [cell cycle]
GO:0016020 [membrane]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0036297 [interstrand cross-link repair]
GO:0070182 [DNA polymerase binding]
GO:1990391 [DNA repair complex]
Show all
1268 aa
142.6 kDa
No 0
FANCI-202
ENSP00000310842
ENST00000310775
Q9NVI1
[Direct mapping] Fanconi anemia group I protein
Show all
   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785 [chromatin]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007049 [cell cycle]
GO:0016020 [membrane]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0036297 [interstrand cross-link repair]
GO:0070182 [DNA polymerase binding]
GO:1990391 [DNA repair complex]
Show all
1328 aa
149.3 kDa
No 0
FANCI-204
ENSP00000455189
ENST00000561894
H3BP78
[Direct mapping] Fanconi anemia group I protein
Show all
   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005829 [cytosol]
GO:0006281 [DNA repair]
Show all
1090 aa
122.8 kDa
No 0
FANCI-205
ENSP00000457029
ENST00000563250
H3BT54
[Direct mapping] Fanconi anemia group I protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
Show all
215 aa
23.8 kDa
No 0
FANCI-208
ENSP00000456552
ENST00000564920
H3BS60
[Direct mapping] Fanconi anemia group I protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
Show all
125 aa
13.7 kDa
No 0
FANCI-209
ENSP00000454371
ENST00000565255
H3BMG4
[Direct mapping] Fanconi anemia group I protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
Show all
226 aa
25 kDa
No 0
FANCI-213
ENSP00000455735
ENST00000567891
H3BQE2
[Direct mapping] Fanconi anemia group I protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
Show all
157 aa
17 kDa
No 0
FANCI-214
ENSP00000458024
ENST00000567996
Q9NVI1
[Direct mapping] Fanconi anemia group I protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785 [chromatin]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007049 [cell cycle]
GO:0016020 [membrane]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0036297 [interstrand cross-link repair]
GO:0070182 [DNA polymerase binding]
GO:1990391 [DNA repair complex]
Show all
252 aa
27.8 kDa
No 0
FANCI-217
ENSP00000454669
ENST00000570225
H3BN35
[Direct mapping] Fanconi anemia group I protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
Show all
145 aa
16.4 kDa
No 0
FANCI-218
ENSP00000502474
ENST00000674831
A0A6Q8PH09
[Direct mapping] Fanconi anemia group I protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
Show all
1372 aa
154.4 kDa
No 1
FANCI-220
ENSP00000502254
ENST00000676003
A0A6Q8PGF4
[Direct mapping] Fanconi anemia group I protein
Show all
   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
Show all
1314 aa
147.7 kDa
No 0
FANCI-222
ENSP00000512830
ENST00000696717
   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
Show all
1235 aa
139.1 kDa
No 0
FANCI-223
ENSP00000512831
ENST00000696718
   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
Show all
1149 aa
129.7 kDa
No 0
FANCI-224
ENSP00000512832
ENST00000696719
   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
Show all
1328 aa
149.3 kDa
No 0

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